Kurnool: An 18-month-old baby girl from Suddapalle village in Kadapa district, born to a couple in a consanguineous (blood-related) marriage, was recently saved from a life-threatening condition by doctors at KIMS Kurnool.
Two days before being brought to the hospital, the child developed a fever and gradually stopped eating, became extremely weak, and started vomiting frequently. Eventually, she began having seizures, which alarmed her parents and led them to rush her to the hospital.
By the time the baby arrived at KIMS Kurnool, she had already slipped into a coma and was experiencing repeated seizures. According to Dr. Swetha Rampally, Consultant Pediatric Neurologist, initial assumptions pointed to common fatigue due to fever and vomiting.
However, blood tests revealed dangerously high levels of ammonia and lactic acid in the baby’s body, indicating severe toxicity. In response, the medical team immediately began peritoneal dialysis to remove toxins from the body and placed the child on a ventilator for life support.
Along with this, intravenous fluids and medications were administered to reduce fatigue and control the seizures.
The timely intervention and comprehensive treatment helped the baby recover significantly within just one week. As her condition stabilized, the doctors were able to stop dialysis and remove ventilator support.
While continuing the emergency management, the doctors sought to understand the root cause of her condition. On questioning the parents, they learned about their consanguineous marriage and a history of unexplained infant deaths in the mother's family.
This led them to suspect a genetic disorder. Further tests confirmed that the child was suffering from Primary Carnitine Deficiency (PCD), an extremely rare genetic metabolic disorder.
Primary Carnitine Deficiency affects the body’s ability to convert food into energy. It prevents the proper removal of waste products and impairs energy production, especially during times of illness or fasting.
As a result, children with this condition may experience symptoms such as poor appetite, fatigue, failure to gain weight, developmental delays, seizures, and excessive sleepiness. In severe cases, like in this baby’s situation, the condition can lead to coma. It is a rare disorder, occurring in about one in 40,000 to 1,20,000 children.
Dr. Shwetha Rampalli highlighted that such genetic conditions are more commonly seen in children born to parents who are closely related. If there is any known family history of such medical issues or unexplained child deaths, it is important to inform doctors during pregnancy.
With timely genetic counseling and prenatal testing, the risk to future children can be assessed. Even after birth, specific genetic tests can help detect such conditions early.
Children diagnosed with Primary Carnitine Deficiency require lifelong care, including a carefully controlled diet. Some types of food must be avoided, while others must be taken in higher amounts.
Specialised Protein supplements become essential, and some medications and vaccines must be avoided altogether. In addition, specific supplements need to be taken for life to help the body function normally and prevent life-threatening episodes.
Dr. Swetha emphasized that what may seem like a simple fever or tiredness in a child could, in rare cases, be the sign of a serious metabolic disorder. Early diagnosis, proper genetic counseling, and consistent treatment are the keys to managing such conditions and ensuring the child leads a healthy life.